National Heart Institute, India
*Corresponding author: Arun Mukherjee, Sr. Consultant in Medicine, National Heart Institute, Delhi, India; Medical Research Director, UDAAN for the Disabled, Lajpatnagar-4, New Delhi, India, Email: firstname.lastname@example.org
Submission: September 26, 2017;Published: December 19, 2017
Volume1 Issue1 December 2017
This is a case study of a novel experimental therapy approach in a rare treatment non-responsive potentially fatal Carnitine Transporter Deficiency Congenital Cardiomyopathy. The child’s LVEF was down to about 24% at presentation. As a last resort, we tried out a new multidisciplinary therapy approach. It restored his treatment response and raised his LVEF to a persistent level of 80 to 84% as followed up for last two years. Three of his similarly affected siblings: two brothers and one sister, had earlier succumbed in spite of optimum Levo-Carnitine supplement (the only approved treatment) as provided by one of the most prestigious Medical Institutes of his country.
Keywords: Cardiomyopathy; Carnitine deficiency; Fatty acid transporter; Hyperbaric oxygen therapy